Gene: CFP ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935480
rs28935480
CFP
0.800 GeneticVariation UNIPROT Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System. 31507604

2019
dbSNP: rs28935480
rs28935480
CFP
0.800 GeneticVariation UNIPROT Functional and structural insight into properdin control of complement alternative pathway amplification. 28264884

2017
dbSNP: rs28935480
rs28935480
CFP
0.800 GeneticVariation UNIPROT Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851

2000
dbSNP: rs28935480
rs28935480
CFP
0.800 GeneticVariation UNIPROT Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations. 9710744

1998
dbSNP: rs28935480
rs28935480
CFP
0.800 GeneticVariation UNIPROT Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. 8871668

1996
dbSNP: rs132630259
rs132630259
CFP
0.700 GeneticVariation UNIPROT Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System. 31507604

2019
dbSNP: rs132630261
rs132630261
CFP
0.700 GeneticVariation UNIPROT Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System. 31507604

2019
dbSNP: rs132630259
rs132630259
CFP
0.700 GeneticVariation UNIPROT Functional and structural insight into properdin control of complement alternative pathway amplification. 28264884

2017
dbSNP: rs132630261
rs132630261
CFP
0.700 GeneticVariation UNIPROT Functional and structural insight into properdin control of complement alternative pathway amplification. 28264884

2017
dbSNP: rs132630259
rs132630259
CFP
0.700 GeneticVariation UNIPROT Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851

2000
dbSNP: rs132630261
rs132630261
CFP
0.700 GeneticVariation UNIPROT Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851

2000
dbSNP: rs132630259
rs132630259
CFP
0.700 GeneticVariation UNIPROT Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations. 9710744

1998
dbSNP: rs132630261
rs132630261
CFP
0.700 GeneticVariation UNIPROT Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations. 9710744

1998
dbSNP: rs132630259
rs132630259
CFP
0.700 GeneticVariation UNIPROT Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. 8871668

1996
dbSNP: rs132630261
rs132630261
CFP
0.700 GeneticVariation UNIPROT Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. 8871668

1996